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There are 11255 results for: content related to: Classification of mismatch repair gene missense variants with PON-MMR

  1. Immunodeficiency mutation databases (IDbases)

    Human Mutation

    Volume 27, Issue 12, December 2006, Pages: 1200–1208, Hilkka Piirilä, Jouni Väliaho and Mauno Vihinen

    Article first published online : 26 SEP 2006, DOI: 10.1002/humu.20405

  2. Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods

    Human Mutation

    Volume 30, Issue 5, May 2009, Pages: 703–714, Janita Thusberg and Mauno Vihinen

    Article first published online : 6 MAR 2009, DOI: 10.1002/humu.20938

  3. Primary Immunodeficiencies: Genotype–Phenotype Correlations

    Immunogenomics and Human Disease

    Mauno Vihinen, Anne Durandy, Pages: 443–460, 2006

    Published Online : 16 MAY 2006, DOI: 10.1002/0470034092.ch20

  4. You have free access to this content
    Performance of mutation pathogenicity prediction methods on missense variants

    Human Mutation

    Volume 32, Issue 4, April 2011, Pages: 358–368, Janita Thusberg, Ayodeji Olatubosun and Mauno Vihinen

    Article first published online : 22 FEB 2011, DOI: 10.1002/humu.21445

  5. Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia

    Human Mutation

    Volume 13, Issue 4, 1999, Pages: 280–285, Mauno Vihinen, Sau-Ping Kwan, Tracy Lester, Hans D. Ochs, Igor Resnick, Jouni Väliaho, Mary Ellen Conley and C.I. Edvard Smith

    Article first published online : 31 MAR 1999, DOI: 10.1002/(SICI)1098-1004(1999)13:4<280::AID-HUMU3>3.0.CO;2-L

  6. Performance of Protein Disorder Prediction Programs on Amino Acid Substitutions

    Human Mutation

    Volume 35, Issue 7, July 2014, Pages: 794–804, Heidi Ali, Siddhaling Urolagin, Ömer Gurarslan and Mauno Vihinen

    Article first published online : 21 MAY 2014, DOI: 10.1002/humu.22564

  7. PON-P: Integrated predictor for pathogenicity of missense variants

    Human Mutation

    Volume 33, Issue 8, August 2012, Pages: 1166–1174, Ayodeji Olatubosun, Jouni Väliaho, Jani Härkönen, Janita Thusberg and Mauno Vihinen

    Article first published online : 7 MAY 2012, DOI: 10.1002/humu.22102

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    BTKbase: the mutation database for X-linked agammaglobulinemia

    Human Mutation

    Volume 27, Issue 12, December 2006, Pages: 1209–1217, Jouni Väliaho, C.I. Edvard Smith and Mauno Vihinen

    Article first published online : 12 SEP 2006, DOI: 10.1002/humu.20410

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    Bioinformatic analysis of protein structure–function relationships: case study of leukocyte elastase (ELA2) missense mutations

    Human Mutation

    Volume 27, Issue 12, December 2006, Pages: 1230–1243, Janita Thusberg and Mauno Vihinen

    Article first published online : 19 SEP 2006, DOI: 10.1002/humu.20407

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    Protein flexibility and intrinsic disorder

    Protein Science

    Volume 13, Issue 1, January 2004, Pages: 71–80, Predrag Radivojac, Zoran Obradovic, David K. Smith, Guang Zhu, Slobodan Vucetic, Celeste J. Brown, J. David Lawson and A. Keith Dunker

    Article first published online : 1 JAN 2009, DOI: 10.1110/ps.03128904

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    Novel insertions of Bruton tyrosine kinase in patients with X-linked agammaglobulinemia

    Human Mutation

    Volume 20, Issue 6, December 2002, Pages: 480–481, Michael P. Okoh, Leena Kainulainen, Kaarina Heiskanen, M. Nizam Isa, Kim Varming, Olli Ruuskanen and Mauno Vihinen

    Article first published online : 19 NOV 2002, DOI: 10.1002/humu.9094

  12. Conserved and quickly evolving immunome genes have different evolutionary paths

    Human Mutation

    Volume 33, Issue 10, October 2012, Pages: 1456–1463, Csaba Ortutay and Mauno Vihinen

    Article first published online : 11 JUN 2012, DOI: 10.1002/humu.22125

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    Guidelines for establishing locus specific databases

    Human Mutation

    Volume 33, Issue 2, February 2012, Pages: 298–305, Mauno Vihinen, Johan T. den Dunnen, Raymond Dalgleish and Richard G. H. Cotton

    Article first published online : 9 DEC 2011, DOI: 10.1002/humu.21646

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    Focus on immunogenetics: diagnosis, molecular genetics, mutations, and diseases

    Human Mutation

    Volume 27, Issue 12, December 2006, Pages: 1161–1162, Mauno Vihinen

    Article first published online : 11 SEP 2006, DOI: 10.1002/humu.20427

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    Structure-Function Effects in Primary Immunodeficiencies

    Scandinavian Journal of Immunology

    Volume 52, Issue 3, September 2000, Pages: 226–232, Korpi, Väliaho and Vihinen

    Article first published online : 25 DEC 2001, DOI: 10.1046/j.1365-3083.2000.00799.x

  16. Registries of immunodeficiency patients and mutations

    Human Mutation

    Volume 10, Issue 4, 1997, Pages: 261–267, Ilkka Lappalainen, Juha Ollila, C. I. Edvard Smith and Mauno Vihinen

    Article first published online : 8 JAN 1999, DOI: 10.1002/(SICI)1098-1004(1997)10:4<261::AID-HUMU1>3.0.CO;2-K

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    Missense mutations affecting a conserved cysteine pair in the TH domain of Btk

    FEBS Letters

    Volume 413, Issue 2, August 18, 1997, Pages: 205–210, Mauno Vihinen, Beston F. Nore, Pekka T. Mattsson, Carl-Magnus Bäckesjö, Martin Nars, Sanna Koutaniemi, Chiaki Watanabe, Tracy Lester, Allison Jones, Hans D. Ochs and C.I.Edvard Smith

    Article first published online : 28 AUG 1998, DOI: 10.1016/S0014-5793(97)00912-5

  18. Proteome analysis of B-cell maturation

    PROTEOMICS

    Volume 6, Issue 19, No. 19 October 2006, Pages: 5152–5168, Johanna M. Salonen, Leena Valmu, Gunilla Rönnholm, Nisse Kalkkinen and Mauno Vihinen

    Article first published online : 31 AUG 2006, DOI: 10.1002/pmic.200600156

  19. Accuracy of protein flexibility predictions

    Proteins: Structure, Function, and Bioinformatics

    Volume 19, Issue 2, June 1994, Pages: 141–149, Mauno Vihinen, Esa Torkkila and Pentti Riikonen

    Article first published online : 3 FEB 2004, DOI: 10.1002/prot.340190207

  20. UMD-Predictor: a High Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

    Human Mutation

    Accepted manuscript online: 4 FEB 2016, David Salgado, Jean-Pierre Desvignes, Ghadi Rai, Arnaud Blanchard, Morgane Miltgen, Amélie Pinard, Nicolas Lévy, Gwenaëlle Collod-Béroud and Christophe Béroud

    DOI: 10.1002/humu.22965